ITM2B explained

Integral membrane protein 2B (ITM2B or BRI2) is a protein that in humans is encoded by the ITM2B gene.^{[1] [2]}

ITM2B or BRI2 is a gene located on chromosome 13. The gene is connected to familial Danish dementia and familial British dementia causing amyloid and pre-filbrillar effects similar to those seen in Alzheimer's.

Further reading

• Rostagno A, Tomidokoro Y, Lashley T, etal . Chromosome 13 dementias. . Cell. Mol. Life Sci. . 62 . 16 . 1814–25 . 2005 . 15968464 . 10.1007/s00018-005-5092-5 . 40812895 . 11139122 .
• Ernst B, Dalby MA, Dalby A . Luria testing in demented patients. . Acta Neurol. Scand. . 46 . S43. Suppl 43:97–8 . 1970 . 5466275 . 10.1111/j.1600-0447.1970.tb01106.x . 221441989 .
• Vidal R, Frangione B, Rostagno A, etal . A stop-codon mutation in the BRI gene associated with familial British dementia. . Nature . 399 . 6738 . 776–81 . 1999 . 10391242 . 10.1038/21637 . 1999Natur.399..776V . 34349437 .
• Vidal R, Revesz T, Rostagno A, etal . A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred. . Proc. Natl. Acad. Sci. U.S.A. . 97 . 9 . 4920–5 . 2000 . 10781099 . 10.1073/pnas.080076097 . 18333 . free . 2000PNAS...97.4920V .
• Hu RM, Han ZG, Song HD, etal . Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. . Proc. Natl. Acad. Sci. U.S.A. . 97 . 17 . 9543–8 . 2000 . 10931946 . 10.1073/pnas.160270997 . 16901 . 2000PNAS...97.9543H . free .
• Fleischer A, Ayllón V, Dumoutier L, etal . Proapoptotic activity of ITM2B(s), a BH3-only protein induced upon IL-2-deprivation which interacts with Bcl-2. . Oncogene . 21 . 20 . 3181–9 . 2002 . 12082633 . 10.1038/sj.onc.1205464 . 27728145 .
• Austen B, el-Agnaf O, Nagala S, etal . Properties of neurotoxic peptides related to the BRI gene. . Biochem. Soc. Trans. . 30 . 4 . 557–9 . 2003 . 12196136 . 10.1042/BST0300557 .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Akiyama H, Kondo H, Arai T, etal . Expression of BRI, the normal precursor of the amyloid protein of familial British dementia, in human brain. . Acta Neuropathol. . 107 . 1 . 53–8 . 2004 . 14586629 . 10.1007/s00401-003-0783-1 . 20479606 .
• Choi SI, Vidal R, Frangione B, Levy E . Axonal transport of British and Danish amyloid peptides via secretory vesicles. . FASEB J. . 18 . 2 . 373–5 . 2004 . 14656991 . 10.1096/fj.03-0730fje . free . 11582717 .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Matsuda S, Giliberto L, Matsuda Y, etal . The familial dementia BRI2 gene binds the Alzheimer gene amyloid-beta precursor protein and inhibits amyloid-beta production. . J. Biol. Chem. . 280 . 32 . 28912–6 . 2005 . 15983050 . 10.1074/jbc.C500217200 . free.
• Fotinopoulou A, Tsachaki M, Vlavaki M, etal . BRI2 interacts with amyloid precursor protein (APP) and regulates amyloid beta (Abeta) production. . J. Biol. Chem. . 280 . 35 . 30768–72 . 2005 . 16027166 . 10.1074/jbc.C500231200 . free .
• Ghiso J, Rostagno A, Tomidokoro Y, etal . Genetic alterations of the BRI2 gene: familial British and Danish dementias. . Brain Pathol. . 16 . 1 . 71–9 . 2006 . 16612984 . 10.1111/j.1750-3639.2006.tb00563.x . 8095812 .

Notes and References

1. Pittois K, Deleersnijder W, Merregaert J . cDNA sequence analysis, chromosomal assignment and expression pattern of the gene coding for integral membrane protein 2B . Gene . 217 . 1–2 . 141–9 . Nov 1998 . 9795190 . 10.1016/S0378-1119(98)00354-0 .
2. Web site: Entrez Gene: ITM2B integral membrane protein 2B.